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ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert syndrome 6
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Accession:DOID:0111001 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22. (DO)
Synonyms:exact_synonym: JBTS6
 primary_id: MESH:C537689;   RDO:0003571
 alt_id: OMIM:610688
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Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11072184

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Term Annotations click to browse term
  disease 15609
    sensory system disease 4769
      eye disease 2338
        ocular motility disease 114
          Joubert syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        peripheral nervous system disease 2182
          neuropathy 2006
            cranial nerve disease 369
              ocular motility disease 114
                Joubert syndrome 6 1
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